{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16020892",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.910C>T (p.Gln304Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546816[alleleid]",
        "alleleId": 546816,
        "preferredName": "NM_000277.3(PAH):c.910C>T (p.Gln304Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558132",
        "RCV": [
          "RCV000674358"
        ],
        "variationId": 558132
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103245467G>A?assembly=hg19",
        "id": "chr12:g.103245467G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102851689G>A?assembly=hg38",
        "id": "chr12:g.102851689G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555204295",
        "rs": 1555204295
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102851689,
          "referenceAllele": "G",
          "start": 102851688
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102851689G>A",
        "CM000674.2:g.102851689G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 103245467,
          "referenceAllele": "G",
          "start": 103245466
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103245467G>A",
        "CM000674.1:g.103245467G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101769597,
          "referenceAllele": "G",
          "start": 101769596
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101769597G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70914,
          "referenceAllele": "C",
          "start": 70913
        }
      ],
      "hgvs": [
        "NG_008690.1:g.70914C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111722,
          "referenceAllele": "C",
          "start": 111721
        }
      ],
      "hgvs": [
        "NG_008690.2:g.111722C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln304Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln304_Lys452delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.910C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.910C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln304Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln304Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.895C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gln299Ter",
        "hgvsWellDefined": "ENSP00000303500.2:p.Gln299_Lys447delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.669C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.572C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln304Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln304_Lys452delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71,
          "referenceAllele": "C",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.71C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825314",
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln304Ter",
        "hgvsWellDefined": "NP_000268.1:p.Gln304_Lys452delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gln304Ter",
        "hgvsWellDefined": "XP_011536724.1:p.Gln304_Lys433delinsIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825314",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln304Ter",
        "hgvsWellDefined": "NP_000268.1:p.Gln304_Lys452delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037701",
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln304Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Gln304_Lys452delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825314",
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln304Ter",
        "hgvsWellDefined": "NP_000268.1:p.Gln304_Lys452delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.910C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.910C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln304Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln304Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037701",
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln304Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Gln304_Lys452delinsGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}